S595P (p.Ser595Pro) variant of UBE3A (Ubiquitin-protein ligase E3A)
S595P (p.Ser595Pro) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and published literature.
S595P (p.Ser595Pro) variant details
- p.Ser595Pro
- rs778513573
- gnomAD 15-25356876-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Literature evidence available